Incidental Mutation 'R6605:Pnlip'
| ID |
525649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnlip
|
| Ensembl Gene |
ENSMUSG00000046008 |
| Gene Name |
pancreatic lipase |
| Synonyms |
1810007A24Rik, PTL, pancreatic triglyceride lipase |
| MMRRC Submission |
044728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6605 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
58658797-58670231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58660174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 29
(D29V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057270]
|
| AlphaFold |
Q6P8U6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057270
AA Change: D29V
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000056377
Gene: ENSMUSG00000046008
AA Change: D29V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Lipase
|
17 |
352 |
2.4e-164 |
PFAM |
|
LH2
|
355 |
465 |
4.47e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.4568 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
92% (35/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice show impaired dietary cholesterol, triglyceride and retinyl ester absorption, resistance to diet-induced obesity, and insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
A |
7: 45,630,481 (GRCm39) |
I1260F |
probably damaging |
Het |
| Acat2 |
A |
G |
17: 13,162,774 (GRCm39) |
V358A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,636,081 (GRCm39) |
A3476V |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,229,516 (GRCm39) |
N150D |
probably damaging |
Het |
| Asb2 |
G |
T |
12: 103,311,943 (GRCm39) |
Q60K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,134 (GRCm39) |
R708* |
probably null |
Het |
| Cd79b |
C |
T |
11: 106,203,539 (GRCm39) |
G116D |
probably damaging |
Het |
| Copg2 |
A |
G |
6: 30,835,757 (GRCm39) |
F218S |
probably benign |
Het |
| Defa5 |
A |
C |
8: 21,787,604 (GRCm39) |
E50D |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,890,107 (GRCm39) |
|
probably null |
Het |
| Eva1c |
T |
A |
16: 90,663,236 (GRCm39) |
V91D |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,043,283 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gm5141 |
G |
A |
13: 62,922,201 (GRCm39) |
H323Y |
probably damaging |
Het |
| Gpr19 |
T |
C |
6: 134,847,398 (GRCm39) |
N58S |
probably benign |
Het |
| Gpr26 |
G |
A |
7: 131,585,893 (GRCm39) |
A288T |
possibly damaging |
Het |
| Gucy2g |
T |
A |
19: 55,229,460 (GRCm39) |
Q70L |
probably damaging |
Het |
| Ifit2 |
C |
T |
19: 34,550,897 (GRCm39) |
R146* |
probably null |
Het |
| Lgr5 |
A |
C |
10: 115,293,772 (GRCm39) |
N408K |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,132,692 (GRCm39) |
Y191* |
probably null |
Het |
| Npr3 |
C |
G |
15: 11,905,518 (GRCm39) |
A70P |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,541 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,265,032 (GRCm39) |
|
probably null |
Het |
| Pnpt1 |
T |
A |
11: 29,088,567 (GRCm39) |
F277I |
possibly damaging |
Het |
| Pou2f2 |
A |
C |
7: 24,793,006 (GRCm39) |
V441G |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,740,002 (GRCm39) |
V459A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,729,195 (GRCm39) |
V855E |
probably damaging |
Het |
| Rflna |
A |
G |
5: 125,088,352 (GRCm39) |
T100A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,131,871 (GRCm39) |
S380T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Taar8a |
A |
T |
10: 23,952,674 (GRCm39) |
I93F |
possibly damaging |
Het |
| Taok2 |
T |
A |
7: 126,477,930 (GRCm39) |
D207V |
probably damaging |
Het |
| Tpst2 |
A |
T |
5: 112,424,600 (GRCm39) |
|
probably benign |
Homo |
| Trdv2-1 |
A |
G |
14: 54,183,999 (GRCm39) |
N77S |
possibly damaging |
Het |
| Wdr17 |
A |
C |
8: 55,134,559 (GRCm39) |
V18G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,261 (GRCm39) |
V402A |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,547 (GRCm39) |
E99G |
possibly damaging |
Het |
| Zw10 |
A |
G |
9: 48,980,926 (GRCm39) |
D442G |
probably benign |
Het |
|
| Other mutations in Pnlip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02257:Pnlip
|
APN |
19 |
58,662,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02733:Pnlip
|
APN |
19 |
58,669,220 (GRCm39) |
missense |
probably benign |
|
|
R1121:Pnlip
|
UTSW |
19 |
58,669,340 (GRCm39) |
splice site |
probably null |
|
|
R2145:Pnlip
|
UTSW |
19 |
58,664,876 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2213:Pnlip
|
UTSW |
19 |
58,662,202 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3405:Pnlip
|
UTSW |
19 |
58,669,191 (GRCm39) |
missense |
probably benign |
|
|
R4703:Pnlip
|
UTSW |
19 |
58,664,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Pnlip
|
UTSW |
19 |
58,664,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4909:Pnlip
|
UTSW |
19 |
58,664,672 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5386:Pnlip
|
UTSW |
19 |
58,668,039 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5444:Pnlip
|
UTSW |
19 |
58,661,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5851:Pnlip
|
UTSW |
19 |
58,662,224 (GRCm39) |
nonsense |
probably null |
|
|
R6515:Pnlip
|
UTSW |
19 |
58,661,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Pnlip
|
UTSW |
19 |
58,668,067 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7057:Pnlip
|
UTSW |
19 |
58,664,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Pnlip
|
UTSW |
19 |
58,670,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7358:Pnlip
|
UTSW |
19 |
58,664,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Pnlip
|
UTSW |
19 |
58,668,066 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7674:Pnlip
|
UTSW |
19 |
58,663,586 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7800:Pnlip
|
UTSW |
19 |
58,670,134 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7983:Pnlip
|
UTSW |
19 |
58,668,491 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9252:Pnlip
|
UTSW |
19 |
58,669,273 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9425:Pnlip
|
UTSW |
19 |
58,669,290 (GRCm39) |
nonsense |
probably null |
|
|
X0025:Pnlip
|
UTSW |
19 |
58,669,242 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCTTGAGCAGAGACCTGTG -3'
(R):5'- CCTTAATCTGATTGCTCTAGAAGTC -3'
Sequencing Primer
(F):5'- AGGTGACGGTCAGTAGCCTG -3'
(R):5'- CTGATTGCTCTAGAAGTCTAAACAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation